http://identifiers.org/exac.variant/22-30803557-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803557
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803557
    reference: chr 22
allele count: 10
allele frequency: 8.244702778464837e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.576C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.388C>A
  hgvsp: ENSP00000385186.3:p.Leu130Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.388C>A
  hgvsp: ENSP00000316203.8:p.Leu130Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.293C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.487C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.166C>A
  hgvsp: ENSP00000383993.1:p.Leu56Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*150C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.226C>A
  hgvsp: ENSP00000387781.1:p.Leu76Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.401C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1183C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14093G>T
  variant of: http://identifiers.org/hgnc/33434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu130Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

22-30803557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803557
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803557
    reference: chr 22
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.401C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14093G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.388C>T
  hgvsp: ENST00000312932.9:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.388C>T
  hgvsp: ENST00000405717.3:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.226C>T
  hgvsp: ENST00000428195.1:c.226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*150C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.576C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.166C>T
  hgvsp: ENST00000403484.1:c.166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1183C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.487C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.293C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu130Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-30803560-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803560
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803560
    reference: chr 22
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*27C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.391C>G
  hgvsp: ENSP00000385186.3:p.Leu131Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.404C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.579C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14090G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.490C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.391C>G
  hgvsp: ENSP00000316203.8:p.Leu131Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*153C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.169C>G
  hgvsp: ENSP00000383993.1:p.Leu57Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.229C>G
  hgvsp: ENSP00000387781.1:p.Leu77Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1186C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.296C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu131Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

22-30803565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803565
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803565
    reference: chr 22
allele count: 3
allele frequency: 2.474879968321537e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.396G>A
  hgvsp: ENST00000312932.9:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.396G>A
  hgvsp: ENST00000405717.3:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.234G>A
  hgvsp: ENST00000428195.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.495G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.301G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.174G>A
  hgvsp: ENST00000403484.1:c.174G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14085C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.409G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*158G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*32G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.584G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1191G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu132Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

22-30803571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803571
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803571
    reference: chr 22
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1197G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.415G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.590G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*164G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*38G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.180G>A
  hgvsp: ENST00000403484.1:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.402G>A
  hgvsp: ENST00000405717.3:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14079C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.501G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.307G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.240G>A
  hgvsp: ENST00000428195.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.402G>A
  hgvsp: ENST00000312932.9:c.402G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu134Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

22-30803575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803575
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803575
    reference: chr 22
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.406G>A
  hgvsp: ENSP00000316203.8:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.419G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.505G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.594G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14075C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*42G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.244G>A
  hgvsp: ENSP00000387781.1:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.406G>A
  hgvsp: ENSP00000385186.3:p.Ala136Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1201G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.311G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.184G>A
  hgvsp: ENSP00000383993.1:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala136Thr
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/22-30803579-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803579
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803579
    reference: chr 22
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.423A>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.598A>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.410A>C
  hgvsp: ENSP00000385186.3:p.His137Pro
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.248A>C
  hgvsp: ENSP00000387781.1:p.His83Pro
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.410A>C
  hgvsp: ENSP00000316203.8:p.His137Pro
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*46A>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.315A>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.509A>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.188A>C
  hgvsp: ENSP00000383993.1:p.His63Pro
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14071T>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1205A>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*172A>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His137Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

22-30803579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803579
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803579
    reference: chr 22
allele count: 546
allele frequency: 4.510532837670384e-3
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*46A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.509A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.410A>G
  hgvsp: ENSP00000316203.8:p.His137Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.248A>G
  hgvsp: ENSP00000387781.1:p.His83Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.410A>G
  hgvsp: ENSP00000385186.3:p.His137Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.598A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.423A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*172A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.188A>G
  hgvsp: ENSP00000383993.1:p.His63Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1205A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.315A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14071T>C
  variant of: http://identifiers.org/hgnc/33434
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 24011
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 4.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15806
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.His137Arg
num of homozygotes: 15
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

22-30803580-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803580
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803580
    reference: chr 22
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.424C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.411C>G
  hgvsp: ENSP00000385186.3:p.His137Gln
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.411C>G
  hgvsp: ENSP00000316203.8:p.His137Gln
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14070G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.189C>G
  hgvsp: ENSP00000383993.1:p.His63Gln
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.249C>G
  hgvsp: ENSP00000387781.1:p.His83Gln
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*47C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*173C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.510C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1206C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.599C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.316C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His137Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

22-30803585-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803585
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803585
    reference: chr 22
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1211C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.416C>T
  hgvsp: ENSP00000385186.3:p.Thr139Ile
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.429C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.515C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.416C>T
  hgvsp: ENSP00000316203.8:p.Thr139Ile
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.194C>T
  hgvsp: ENSP00000383993.1:p.Thr65Ile
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14065G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.254C>T
  hgvsp: ENSP00000387781.1:p.Thr85Ile
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*52C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.604C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.321C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*178C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr139Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

22-30803594-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803594
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803594
    reference: chr 22
allele count: 3
allele frequency: 2.486654951758894e-5
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14056A>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+2T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1220T>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15733
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.423+2T>G
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

22-30803599-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803599
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803599
    reference: chr 22
allele count: 1
allele frequency: 8.303992559622666e-6
allele num: 120424
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1225G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+7G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14051C>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+7G>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.423+7G>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

22-30803608-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803608
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803608
    reference: chr 22
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14042A>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1234T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+16T>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+16T>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

22-30803609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803609
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803609
    reference: chr 22
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1235G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14041C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+17G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+17G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22125
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

22-30803622-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803622
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803622
    reference: chr 22
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14028A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+30T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1248T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+30T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

22-30803627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803627
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803627
    reference: chr 22
allele count: 193
allele frequency: 1.617200985403295e-3
allele num: 119342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1253C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+35C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14023G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+35C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

22-30803640-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30803640
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30803640
    reference: chr 22
allele count: 1
allele frequency: 8.423464402439436e-6
allele num: 118716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*59+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.261+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.201+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.423+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.611+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.174+1266T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+14010A>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.522+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.436+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.423+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*185+48T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.328+48T>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

22-30805054-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805054
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805054
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 75080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12596C>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-42G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.44G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-42G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-42G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-122G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-122G>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17925
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

22-30805057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805057
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805057
    reference: chr 22
allele count: 1
allele frequency: 1.321527686005022e-5
allele num: 75670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12593G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.47C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-39C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-39C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-39C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-119C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-119C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

22-30805058-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805058
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805058
    reference: chr 22
allele count: 5
allele frequency: 6.610608704849543e-5
allele num: 75636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12592G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-38C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-38C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.48C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-38C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-118C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-118C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18190
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-30805067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805067
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805067
    reference: chr 22
allele count: 1
allele frequency: 1.252348152786475e-5
allele num: 79850
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.57C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-29C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12583G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-29C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-109C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-29C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

22-30805075-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805075
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805075
    reference: chr 22
allele count: 2
allele frequency: 2.362223324593107e-5
allele num: 84666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12575C>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-21G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.65G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-101G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-21G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-21G>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

22-30805083-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805083
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805083
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 90906
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12567A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-13T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.73T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-13T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-93T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-13T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

22-30805087-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805087
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805087
    reference: chr 22
allele count: 6
allele frequency: 6.338608464155169e-5
allele num: 94658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.77G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-9G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12563C>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-9G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-89G>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-9G>T
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27775
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

22-30805093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805093
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805093
    reference: chr 22
allele count: 1
allele frequency: 9.976256509507373e-6
allele num: 100238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523-3C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60-3C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186-3C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12557G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-83C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-83C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30552
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.523-3C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

22-30805096-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805096
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805096
    reference: chr 22
allele count: 1
allele frequency: 9.764480724915048e-6
allele num: 102412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.523T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.86T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*60T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*186T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12554A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-80T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-80T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.523T>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

22-30805097-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805097
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805098
    reference: chr 22
allele count: 1
allele frequency: 9.69274013763691e-6
allele num: 103170
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*188dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.525dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12552dupG
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.88dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-78dupC
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*62dupC
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.525dupC
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-30805100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805100
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805100
    reference: chr 22
allele count: 0
allele frequency: 0.0e0
allele num: 105652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12550T>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*190A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*64A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.527A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-76A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.90A>G
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7616
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

22-30805101-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805101
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805101
    reference: chr 22
allele count: 1
allele frequency: 9.420808682217281e-6
allele num: 106148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*65T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12549A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.528T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*191T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.91T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-75T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-75T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-30805106-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805106
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805106
    reference: chr 22
allele count: 2
allele frequency: 1.831334126911455e-5
allele num: 109210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*196T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.533T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.96T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.3T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12544A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-70T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-70T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/22-30805109-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805109
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805109
    reference: chr 22
allele count: 1
allele frequency: 9.000252007056197e-6
allele num: 111108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12541G>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.99C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.536C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.6C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*73C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*199C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-67C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-67C>A
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

22-30805118-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805118
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805118
    reference: chr 22
allele count: 1
allele frequency: 8.622027556000069e-6
allele num: 115982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12532C>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*208G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.545G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.15G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*82G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-58G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.108G>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

22-30805121-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805121
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805121
    reference: chr 22
allele count: 3
allele frequency: 2.568009450274777e-5
allele num: 116822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*85C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.548C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12529G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.18C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.111C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-55C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-55C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

22-30805122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805122
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805122
    reference: chr 22
allele count: 18
allele frequency: 1.534265257415616e-4
allele num: 117320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.549G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.112G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.19G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12528C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-54G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-54G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11947
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37720
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

22-30805124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805124
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805124
    reference: chr 22
allele count: 1
allele frequency: 8.483779014524229e-6
allele num: 117872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.21G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12526C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000416523
  gene symbol: SEC14L2
  hgvsc: ENST00000416523.1:n.551G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*214G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.114G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-52G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-52G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

22-30805137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805137
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805137
    reference: chr 22
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12513C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.34G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*101G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.127G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-39G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-39G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

22-30805139-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805139
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805139
    reference: chr 22
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*229C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12511G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.129C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*103C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.36C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-37C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-37C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

22-30805149-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805149
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805149
    reference: chr 22
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*239A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12501T>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.46A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.139A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-27A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-27A>G
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

22-30805155-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805155
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805155
    reference: chr 22
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.52C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.145C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*245C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12495G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*119C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-21C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-21C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

22-30805158-GCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805158
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805156
    reference: chr 22
allele count: 8
allele frequency: 6.630200563567048e-5
allele num: 120660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-13_437-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.153_154delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*253_*254delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-13_262-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-13_202-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12490_-126+12491delAG
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-13_424-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-13_329-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*127_*128delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-13_175-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-13_424-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-13_612-12delCT
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.60_61delCT
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: GCT
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

22-30805161-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805161
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805161
    reference: chr 22
allele count: 5
allele frequency: 4.142845306156268e-5
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*251C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.58C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.151C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-15C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*125C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12489G>C
  variant of: http://identifiers.org/hgnc/33434
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

22-30805165-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805165
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805165
    reference: chr 22
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.62G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*129G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.155G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12485C>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*255G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-11G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-11G>C
  variant of: http://identifiers.org/hgnc/10699
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

22-30805168-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805168
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805168
    reference: chr 22
allele count: 1
allele frequency: 8.278282753025713e-6
allele num: 120798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*258C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.158C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*132C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12482G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.65C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-8C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-8C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.424-8C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-30805169-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805169
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805169
    reference: chr 22
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.159C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*259C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12481G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-7C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.66C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.424-7C>T
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

22-30805171-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805171
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805171
    reference: chr 22
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*135T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12479A>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.161T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*261T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424-5T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.68T>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.424-5T>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

22-30805176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805176
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805176
    reference: chr 22
allele count: 12
allele frequency: 9.925886712546321e-5
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.175T>C
  hgvsp: ENST00000402592.3:c.175T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.329T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*266T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.612T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12474A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.202T>C
  hgvsp: ENST00000403484.1:c.202T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.262T>C
  hgvsp: ENST00000428195.1:c.262T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.166T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.424T>C
  hgvsp: ENST00000405717.3:c.424T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.437T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.424T>C
  hgvsp: ENST00000312932.9:c.424T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.73T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*140T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.424T>C
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

22-30805181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805181
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805181
    reference: chr 22
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.429G>A
  hgvsp: ENST00000312932.9:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12469C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.78G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.180G>A
  hgvsp: ENST00000402592.3:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*145G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.171G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.334G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.207G>A
  hgvsp: ENST00000403484.1:c.207G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.429G>A
  hgvsp: ENST00000405717.3:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.267G>A
  hgvsp: ENST00000428195.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.617G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*271G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.442G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly143Gly
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

22-30805183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805183
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805183
    reference: chr 22
allele count: 2
allele frequency: 1.653548515113433e-5
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12467C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.173G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.182G>A
  hgvsp: ENSP00000383882.3:p.Arg61Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.431G>A
  hgvsp: ENSP00000316203.8:p.Arg144Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.269G>A
  hgvsp: ENSP00000387781.1:p.Arg90Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*273G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.431G>A
  hgvsp: ENSP00000385186.3:p.Arg144Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.444G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.80G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.336G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.209G>A
  hgvsp: ENSP00000383993.1:p.Arg70Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.619G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg144Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

22-30805188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805188
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805188
    reference: chr 22
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.341G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.274G>A
  hgvsp: ENSP00000387781.1:p.Val92Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.85G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*278G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.449G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.436G>A
  hgvsp: ENSP00000316203.8:p.Val146Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.214G>A
  hgvsp: ENSP00000383993.1:p.Val72Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*152G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.624G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.187G>A
  hgvsp: ENSP00000383882.3:p.Val63Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12462C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.436G>A
  hgvsp: ENSP00000385186.3:p.Val146Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.178G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val146Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/22-30805195-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805195
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805195
    reference: chr 22
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.443C>A
  hgvsp: ENSP00000385186.3:p.Thr148Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.221C>A
  hgvsp: ENSP00000383993.1:p.Thr74Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.443C>A
  hgvsp: ENSP00000316203.8:p.Thr148Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.631C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.185C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.194C>A
  hgvsp: ENSP00000383882.3:p.Thr65Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*285C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.281C>A
  hgvsp: ENSP00000387781.1:p.Thr94Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.92C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*159C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.456C>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12455G>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.348C>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr148Asn
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

22-30805198-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805198
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805198
    reference: chr 22
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.284T>C
  hgvsp: ENSP00000387781.1:p.Ile95Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.188T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.95T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*162T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.446T>C
  hgvsp: ENSP00000316203.8:p.Ile149Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.224T>C
  hgvsp: ENSP00000383993.1:p.Ile75Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.446T>C
  hgvsp: ENSP00000385186.3:p.Ile149Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*288T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.351T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.459T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.197T>C
  hgvsp: ENSP00000383882.3:p.Ile66Thr
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12452A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.634T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile149Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

22-30805202-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805202
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805202
    reference: chr 22
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*292C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.450C>G
  hgvsp: ENST00000312932.9:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.638C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.463C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.201C>G
  hgvsp: ENST00000402592.3:c.201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.228C>G
  hgvsp: ENST00000403484.1:c.228C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.288C>G
  hgvsp: ENST00000428195.1:c.288C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12448G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.355C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.450C>G
  hgvsp: ENST00000405717.3:c.450C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.192C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*166C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.99C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr150Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

22-30805202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805202
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805202
    reference: chr 22
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.450C>T
  hgvsp: ENST00000405717.3:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12448G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.228C>T
  hgvsp: ENST00000403484.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.288C>T
  hgvsp: ENST00000428195.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.355C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.463C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*292C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.201C>T
  hgvsp: ENST00000402592.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.450C>T
  hgvsp: ENST00000312932.9:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.192C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.99C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.638C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5915
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr150Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

22-30805206-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805206
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805206
    reference: chr 22
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.292A>G
  hgvsp: ENSP00000387781.1:p.Ile98Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.103A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*296A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.232A>G
  hgvsp: ENSP00000383993.1:p.Ile78Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.196A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.642A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.454A>G
  hgvsp: ENSP00000385186.3:p.Ile152Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.454A>G
  hgvsp: ENSP00000316203.8:p.Ile152Val
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12444T>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.467A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.359A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*170A>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.205A>G
  hgvsp: ENSP00000383882.3:p.Ile69Val
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile152Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

22-30805217-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805217
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805217
    reference: chr 22
allele count: 2
allele frequency: 1.652264428399121e-5
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*181C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.465C>T
  hgvsp: ENST00000312932.9:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.653C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.216C>T
  hgvsp: ENST00000402592.3:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.465C>T
  hgvsp: ENST00000405717.3:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.243C>T
  hgvsp: ENST00000403484.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.114C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.303C>T
  hgvsp: ENST00000428195.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12433G>A
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*307C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.370C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.478C>T
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.207C>T
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys155Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

22-30805218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805218
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805218
    reference: chr 22
allele count: 2
allele frequency: 1.652428243303535e-5
allele num: 121034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.217G>A
  hgvsp: ENSP00000383882.3:p.Glu73Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.479G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.244G>A
  hgvsp: ENSP00000383993.1:p.Glu82Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.466G>A
  hgvsp: ENSP00000316203.8:p.Glu156Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.654G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.208G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.115G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.466G>A
  hgvsp: ENSP00000385186.3:p.Glu156Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12432C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.304G>A
  hgvsp: ENSP00000387781.1:p.Glu102Lys
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*182G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*308G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.371G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu156Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

22-30805227-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805227
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805227
    reference: chr 22
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.313G>C
  hgvsp: ENSP00000387781.1:p.Gly105Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*191G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.663G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.475G>C
  hgvsp: ENSP00000316203.8:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.124G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.380G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.475G>C
  hgvsp: ENSP00000385186.3:p.Gly159Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.217G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.226G>C
  hgvsp: ENSP00000383882.3:p.Gly76Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12423C>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.253G>C
  hgvsp: ENSP00000383993.1:p.Gly85Arg
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.488G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*317G>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly159Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

22-30805228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805228
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805228
    reference: chr 22
allele count: 2
allele frequency: 1.652619401751776e-5
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*318G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.254G>A
  hgvsp: ENSP00000383993.1:p.Gly85Asp
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.314G>A
  hgvsp: ENSP00000387781.1:p.Gly105Asp
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.476G>A
  hgvsp: ENSP00000316203.8:p.Gly159Asp
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.489G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.476G>A
  hgvsp: ENSP00000385186.3:p.Gly159Asp
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.664G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.381G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.227G>A
  hgvsp: ENSP00000383882.3:p.Gly76Asp
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.218G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12422C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.125G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly159Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

22-30805235-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805235
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805235
    reference: chr 22
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.261G>C
  hgvsp: ENSP00000383993.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.483G>C
  hgvsp: ENSP00000316203.8:p.Lys161Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.234G>C
  hgvsp: ENSP00000383882.3:p.Lys78Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.671G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.132G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*325G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.388G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.496G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388719
  ensembl transcript: ENST00000437022
  gene symbol: SEC14L2
  hgvsc: ENST00000437022.1:c.*199G>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.321G>C
  hgvsp: ENSP00000387781.1:p.Lys107Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12415C>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.483G>C
  hgvsp: ENSP00000385186.3:p.Lys161Asn
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.225G>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys161Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

22-30805248-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805248
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805248
    reference: chr 22
allele count: 9
allele frequency: 7.443429932512901e-5
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.496C>G
  hgvsp: ENSP00000316203.8:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.247C>G
  hgvsp: ENSP00000383882.3:p.Pro83Ala
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*338C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.496C>G
  hgvsp: ENSP00000385186.3:p.Pro166Ala
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.684C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12402G>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000454552.1:c.5C>G
  hgvsp: ENSP00000416788.1:p.Pro3Ala
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.334C>G
  hgvsp: ENSP00000387781.1:p.Pro112Ala
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.274C>G
  hgvsp: ENSP00000383993.1:p.Pro92Ala
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.401C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.509C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.238C>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.145C>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro166Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

22-30805250-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805250
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805250
    reference: chr 22
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.403T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.276T>G
  hgvsp: ENST00000403484.1:c.276T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12400A>C
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.511T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.498T>G
  hgvsp: ENST00000405717.3:c.498T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.147T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.498T>G
  hgvsp: ENST00000312932.9:c.498T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.249T>G
  hgvsp: ENST00000402592.3:c.249T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000454552.1:c.7T>G
  hgvsp: ENST00000454552.1:c.7T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.686T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*340T>G
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.336T>G
  hgvsp: ENST00000428195.1:c.336T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.240T>G
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro166Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

22-30805253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805253
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805253
    reference: chr 22
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000400753
  ensembl transcript: ENST00000439023
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439023.3:c.2T>C
  hgvsp: ENST00000439023.3:c.2T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.279T>C
  hgvsp: ENST00000403484.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.339T>C
  hgvsp: ENST00000428195.1:c.339T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.150T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.689T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.406T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*343T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.243T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.252T>C
  hgvsp: ENST00000402592.3:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000454552.1:c.10T>C
  hgvsp: ENST00000454552.1:c.10T>C(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.501T>C
  hgvsp: ENST00000312932.9:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.501T>C
  hgvsp: ENST00000405717.3:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000415178
  ensembl transcript: ENST00000439838
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439838.1:c.3T>C
  hgvsp: ENST00000439838.1:c.3T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12397A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.514T>C
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

22-30805254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805254
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805254
    reference: chr 22
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000454552.1:c.11G>A
  hgvsp: ENSP00000416788.1:p.Val5Met
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.244G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.515G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.340G>A
  hgvsp: ENSP00000387781.1:p.Val114Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.151G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*344G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.502G>A
  hgvsp: ENSP00000316203.8:p.Val168Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000400753
  ensembl transcript: ENST00000439023
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439023.3:c.3G>A
  hgvsp: ENSP00000400753.3:p.Val2Met
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.280G>A
  hgvsp: ENSP00000383993.1:p.Val94Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.253G>A
  hgvsp: ENSP00000383882.3:p.Val85Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.502G>A
  hgvsp: ENSP00000385186.3:p.Val168Met
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000415178
  ensembl transcript: ENST00000439838
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439838.1:c.4G>A
  hgvsp: ENSP00000415178.1:p.Val2Met
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12396C>T
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000459728
  gene symbol: SEC14L2
  hgvsc: ENST00000459728.1:n.690G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.407G>A
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val2Met
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

22-30805273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805273
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805273
    reference: chr 22
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.424+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.519+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.168+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.261+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.532+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*361+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.519+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.297+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.270+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.357+2T>C
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000400753
  ensembl transcript: ENST00000439023
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439023.3:c.20+2T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12377A>G
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000415178
  ensembl transcript: ENST00000439838
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439838.1:c.21+2T>C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000454552.1:c.28+2T>C
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12999
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.519+2T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

22-30805278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805278
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805278
    reference: chr 22
allele count: 7
allele frequency: 5.812601720530109e-5
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  hgvsc: ENST00000452649.1:c.*361+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  hgvsc: ENST00000405717.3:c.519+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  hgvsc: ENST00000428195.1:c.357+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000400753
  ensembl transcript: ENST00000439023
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439023.3:c.20+7G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  hgvsc: ENST00000402592.3:c.270+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  hgvsc: ENST00000483116.1:n.261+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000454552.1:c.28+7G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000415178
  ensembl transcript: ENST00000439838
  gene symbol: RP4-539M6.19
  hgvsc: ENST00000439838.1:c.21+7G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  hgvsc: ENST00000478762.1:n.168+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  hgvsc: ENST00000464335.1:n.424+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  hgvsc: ENST00000467218.1:n.532+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  hgvsc: ENST00000312932.9:c.519+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  hgvsc: ENST00000403484.1:c.297+7G>A
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  hgvsc: ENST00000431544.1:c.-126+12372C>T
  variant of: http://identifiers.org/hgnc/33434
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33990
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.519+7G>A
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

22-30805291-A-AGGAAGGGGACAGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 30805291
    reference: chr 22
  end: Position
    type: ExactPosition
    position: 30805305
    reference: chr 22
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: AGGAAGGGGACAGAG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000467218
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000416788
  ensembl transcript: ENST00000454552
  gene symbol: RP4-539M6.19
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000387781
  ensembl transcript: ENST00000428195
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000483116
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000400753
  ensembl transcript: ENST00000439023
  gene symbol: RP4-539M6.19
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383882
  ensembl transcript: ENST00000402592
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000316203
  ensembl transcript: ENST00000312932
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000478762
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099999
  ensembl protein: ENSP00000404738
  ensembl transcript: ENST00000431544
  gene symbol: RNF215
  variant of: http://identifiers.org/hgnc/33434
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000388888
  ensembl transcript: ENST00000452649
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000383993
  ensembl transcript: ENST00000403484
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl protein: ENSP00000385186
  ensembl transcript: ENST00000405717
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000249590
  ensembl protein: ENSP00000415178
  ensembl transcript: ENST00000439838
  gene symbol: RP4-539M6.19
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100003
  ensembl transcript: ENST00000464335
  gene symbol: SEC14L2
  variant of: http://identifiers.org/hgnc/10699
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A

GenotypeDepth
all individuals: 51
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4099
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.059137178865729e-4
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.212e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.896867e6

FS
type: SiteQuality
SIO_000300: 8.092000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeDepth
all individuals: 137
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4099
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10244
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.87e-1

FS
type: SiteQuality
SIO_000300: 8.092000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.212e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.226e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

DP
type: SiteQuality
SIO_000300: 1.896867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

GenotypeDepth
all individuals: 24175
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 875
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4096
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 31711
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e0

DP
type: SiteQuality
SIO_000300: 1.895715e6

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -3.217e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.396e0

QD
type: SiteQuality
SIO_000300: 1.823e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

GenotypeDepth
all individuals: 875
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15863
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2748
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3239
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818843215714805e-4
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

DP
type: SiteQuality
SIO_000300: 1.893852e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 2.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.058e1

FS
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SIO_000300: 7.06e-1

BaseQRankSum
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SIO_000300: -2.549e0

MQRankSum
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SIO_000300: -2.76e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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ReadPosRankSum
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DP
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SIO_000300: 1.892322e6

MQ
type: SiteQuality
SIO_000300: 5.758e1

VQSLOD
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SIO_000300: -1.555e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.890688e6

BaseQRankSum
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SIO_000300: -6.363e0

InbreedingCoeff
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SIO_000300: 7.6e-3

FS
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SIO_000300: 2.829e0

QD
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SIO_000300: 1.183e1

ReadPosRankSum
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SIO_000300: 3.78e-1

MQRankSum
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SIO_000300: 5.84e-1

VQSLOD
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SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1191
bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.968e1

DP
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SIO_000300: 1.887699e6

InbreedingCoeff
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SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
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SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

GenotypeDepth
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variant carriers: 45

GenotypeDepth
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variant carriers: 26

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 531

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

African
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allele count: 503
allele frequency: 4.840261739799846e-2
allele num: 10392
num of homozygotes: 15

European (Non-Finnish)
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allele count: 17
allele frequency: 2.555852903148209e-4
allele num: 66514
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

Latino
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allele count: 24
allele frequency: 2.076124567474049e-3
allele num: 11560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

InbreedingCoeff
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SIO_000300: 4.3e-2

BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: 1.11e-1

MQ
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SIO_000300: 5.968e1

ReadPosRankSum
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SIO_000300: 3.16e-1

FS
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.887699e6

GenotypeDepth
all individuals: 20
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

Other
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European (Finnish)
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African
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South Asian
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Latino
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 8.75e-1

BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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FS
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VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

African
type: Population
allele count: 0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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MQ
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DP
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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European (Non-Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.513042425709617e-5
allele num: 66092
num of homozygotes: 0

Latino
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African
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European (Finnish)
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East Asian
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Other
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South Asian
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BaseQRankSum
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DP
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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South Asian
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Other
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QD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 40

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.520681265206813e-5
allele num: 65760
num of homozygotes: 0

South Asian
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Other
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East Asian
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African
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allele frequency: 1.778425655976676e-2
allele num: 10290
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Latino
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European (Finnish)
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ReadPosRankSum
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DP
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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Latino
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African
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European (Non-Finnish)
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South Asian
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QD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 3.121098626716604e-4
allele num: 6408
num of homozygotes: 0

European (Finnish)
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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Other
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MQ
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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MQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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allele num: 48282
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East Asian
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Other
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European (Finnish)
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South Asian
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BaseQRankSum
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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VQSLOD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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Latino
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South Asian
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.422879908935686e-4
allele num: 7028
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Latino
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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FS
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57940
num of homozygotes: 0

Latino
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allele frequency: 1.200192030724916e-4
allele num: 8332
num of homozygotes: 0

Other
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MQRankSum
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QD
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FS
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MQ
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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South Asian
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DP
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8970
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele num: 7420
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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DP
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Latino
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MQRankSum
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ClippingRankSum
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10954
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.417661404184315e-5
allele num: 15582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -2.44e-1

MQRankSum
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DP
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VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
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SIO_000300: -7.95e-1

BaseQRankSum
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SIO_000300: -2.54e-1

QD
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SIO_000300: 2.008e1

FS
type: SiteQuality
SIO_000300: 2.507e0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.013881377321075e-5
allele num: 11094
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 9952
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South Asian
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allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.108196313679172e-5
allele num: 64346
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
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FS
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SIO_000300: 6.765e0

MQRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

DP
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BaseQRankSum
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VQSLOD
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SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.26e-1

ReadPosRankSum
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SIO_000300: 5.16e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 4
allele frequency: 3.582303421099767e-4
allele num: 11166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 1.996805111821086e-4
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
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allele count: 12
allele frequency: 1.859254438969973e-4
allele num: 64542
num of homozygotes: 0

QD
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SIO_000300: 1.325e1

MQRankSum
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SIO_000300: 2.01e-1

MQ
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SIO_000300: 5.975e1

BaseQRankSum
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DP
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SIO_000300: 1.440069e6

VQSLOD
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SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 7.89e-1

ClippingRankSum
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SIO_000300: -3.36e-1

ReadPosRankSum
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SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54320987654321e-5
allele num: 64800
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BaseQRankSum
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SIO_000300: -1.82e0

VQSLOD
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SIO_000300: 1.26e0

DP
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SIO_000300: 1.446352e6

ClippingRankSum
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FS
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MQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16218
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
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allele num: 65708
num of homozygotes: 0

Other
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East Asian
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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African
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Other
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ClippingRankSum
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DP
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QD
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FS
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511807214344027e-5
allele num: 66146
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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QD
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ClippingRankSum
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SIO_000300: -1.639e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 7
allele frequency: 8.109360518999073e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQ
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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SIO_000300: 1.181e0

DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 5
allele frequency: 3.039144176999757e-4
allele num: 16452
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

Latino
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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SIO_000300: -9.75e-1

ClippingRankSum
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SIO_000300: -6.0e-1

QD
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SIO_000300: 1.066e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

Other
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allele count: 0
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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FS
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

East Asian
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FS
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

African
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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allele frequency: 9.645061728395061e-5
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European (Finnish)
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Other
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DP
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MQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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FS
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BaseQRankSum
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DP
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16488
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Latino
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Other
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VQSLOD
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FS
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MQ
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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South Asian
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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QD
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FS
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Other
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Latino
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Latino
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European (Finnish)
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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QD
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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FS
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
allele num: 8640
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African
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allele num: 10342
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Other
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European (Finnish)
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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East Asian
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Other
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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ReadPosRankSum
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QD
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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QD
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MQ
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 1927
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.25480184779966e-4
allele num: 16452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

DP
type: SiteQuality
SIO_000300: 1.45516e6

QD
type: SiteQuality
SIO_000300: 1.579e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.57e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeDepth
all individuals: 13489
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1687
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1451
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33366
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0